SHANK2-LRTOMT Fusion FISH Probe
The SHANK2-LRTOMT Fusion FISH Probe is used to confirm a fusion of the SHANK2 and LRTOMT genes. The fusion of the SHANK2 and LRTOMT genes has been associated with Bladder Urothelial Carcinoma. These probes are FISH confirmed on normal peripheral blood in both interphase nuclei and metaphase spreads before shipment. Typical turnaround time for this product is 7-14 days after purchase.
** This product is for in vitro and research use only. This product is not intended for diagnostic use. Please note that both genes fall on the same chromosome and inter-chromosomal detection may be difficult to detect depending on the genes proximity to one another. Please consult our support staff before ordering this product to ensure that the probe can be designed to meet your specific needs.
| SKU | Test Kits | Buffer | Dye Color | Order Now |
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| SHANK2-LRTOMT-20-ORGR (Standard Design) | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-RERE | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-REOR | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-REGO | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-REGR | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-REAQ | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-ORRE | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-OROR | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-ORGO | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-ORAQ | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-GORE | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-GOOR | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-GOGO | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-GOGR | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-GOAQ | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-GRRE | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-GROR | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-GRGO | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-GRGR | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-GRAQ | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-AQRE | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-AQOR | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-AQGO | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-AQGR | 20 (40 μL) | 200 μL |
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| SHANK2-LRTOMT-20-AQAQ | 20 (40 μL) | 200 μL |
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SHANK2 Gene Summary
This gene encodes a protein that is a member of the Shank family of synaptic proteins that may function as molecular scaffolds in the postsynaptic density of excitatory synapses. Shank proteins contain multiple domains for protein-protein interaction, including ankyrin repeats, and an SH3 domain. This particular family member contains a PDZ domain, a consensus sequence for cortactin SH3 domain-binding peptides and a sterile alpha motif. The alternative splicing demonstrated in Shank genes has been suggested as a mechanism for regulating the molecular structure of Shank and the spectrum of Shank-interacting proteins in the postsynaptic densities of the adult and developing brain. Alterations in the encoded protein may be associated with susceptibility to autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]
Gene Name: SH3 And Multiple Ankyrin Repeat Domains 2
Chromosome: CHR11: 70313960 -70935808
Locus: 11q13.3-q13.4
LRTOMT Gene Summary
This gene has evolved in primates as a fusion of two ancestral neighboring genes, Lrrc51 and Tomt, which exist as two independent genes in rodents. The fusion gene contains some shared exons, but encodes structurally unrelated proteins, LRTOMT1 and LRTOMT2. Those variants that utilize the more centromere-proximal 3' terminal exon (short transcript form) encode LRTOMT1, while those variants that use a more centromere-distal 3' terminal exon (long transcript form) encode the LRTOMT2 protein. There is a small region within one of the exons of this gene that contains overlapping alternate reading frames for both LRTOMT1 and LRTOMT2. LRTOMT1 shares similarity with the protein encoded by mouse Lrrc51, while LRTOMT2 shares similarity with the protein encoded by mouse Tomt. Alternative splicing results in multiple transcript variants, encoding different isoforms of both LRTOMT1 and LRTOMT2. The LRTOMT1 protein is a leucine-rich repeat-containing protein, while the LRTOMT2 protein is a catechol-O-methyltransferase that catalyzes the transfer of a methyl group from S-adenosyl-L-methionine to a hydroxyl group of catechols and is essential for auditory and vestibular function. Mutations in this gene have been associated with nonsyndromic deafness. [provided by RefSeq, Nov 2017]
Gene Name: Leucine Rich Transmembrane And O-methyltransferase Domain Containing
Chromosome: CHR11: 71791376 -71821828
Locus: 11q13.4
Gene Diseases
The SHANK2 LRTOMT Fusion has been associated with the following diseases:
| Disease Name |
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| Bladder Urothelial Carcinoma |
FISH Probe Protocols
| Protocol, Procedure, or Form Name | Last Modified | Download |
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